Hic2 hypermethylated in cancer 2 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Hic2provided by MGI
Official Full Name: hypermethylated in cancer 2provided by MGI
Primary source: MGI:MGI:1929869
See related: Ensembl:ENSMUSG00000050240 AllianceGenome:MGI:1929869
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: HRG22; mKIAA1020
Summary: Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific; RNA polymerase II cis-regulatory region sequence-specific DNA binding activity; and protein C-terminus binding activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Predicted to be located in nucleoplasm. Predicted to be active in nucleus. Is expressed in female reproductive system and urinary system. Orthologous to human HIC2 (HIC ZBTB transcriptional repressor 2). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Broad expression in placenta adult (RPKM 11.4), CNS E11.5 (RPKM 5.1) and 26 other tissues See more
Orthologs: human all
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Genomic context

Location:: 16 A3; 16 10.68 cM

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	16	NC_000082.7 (17051451..17081294)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	16	NC_000082.6 (17233587..17263430)

Chromosome 16 - NC_000082.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

HIC2 is a pivotal transcriptional activator of SIRT1
Title: HIC2, a new transcription activator of SIRT1.
HIC2 regulates a switching event within both the contractile machinery of cardiomyocytes and the oxygen carrying systems during the developmental period.
Title: HIC2 regulates isoform switching during maturation of the cardiovascular system.
data suggest that HIC2 haploinsufficiency likely contributes to the cardiac defects seen in distal 22q11 deletion syndrome
Title: HIC2 is a novel dosage-dependent regulator of cardiac development located within the distal 22q11 deletion syndrome region.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Gene trapped (4) 1 citation
Targeted (2)
Endonuclease-mediated (1)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH125835 (e-PCR)
- UniSTS:162579

RH124822 (e-PCR)
- UniSTS:161644

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables DNA binding	IEA Inferred from Electronic Annotation more info
enables DNA-binding transcription factor activity, RNA polymerase II-specific	IBA Inferred from Biological aspect of Ancestor more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in nucleoplasm	ISO Inferred from Sequence Orthology more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	ISO Inferred from Sequence Orthology more info
located_in plasma membrane	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: hypermethylated in cancer 2 protein

Names: hic-2

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_178922.3 → NP_849253.2 hypermethylated in cancer 2 protein

See identical proteins and their annotated locations for NP_849253.2

Status: VALIDATED

Source sequence(s)

AK129266, BC050867, BQ954078, BQ965108

Consensus CDS

CCDS27999.1

UniProtKB/Swiss-Prot

Q3U030, Q3ULP4, Q5K036, Q8BSZ9, Q8C3T5, Q9JLZ6

Related

ENSMUSP00000087656.6, ENSMUST00000090190.14

Conserved Domains (6) summary

smart00225
Location:47 → 141

BTB; Broad-Complex, Tramtrack and Bric a brac

COG5048
Location:563 → 617

COG5048; FOG: Zn-finger [General function prediction only]

sd00017
Location:539 → 559

ZF_C2H2; C2H2 Zn finger [structural motif]

pfam00096
Location:537 → 559

zf-C2H2; Zinc finger, C2H2 type

pfam00651
Location:40 → 140

BTB; BTB/POZ domain

pfam13465
Location:580 → 604

zf-H2C2_2; Zinc-finger double domain